title: Two novel and two known low-density lipoprotein receptor gene mutations in German patients with familial hypercholesterolemia.
authors.affiliation: Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.
authors.forename: R
authors.initials: R
authors.lastname: Thiart
authors.forename: O
authors.initials: O
authors.lastname: Loubser
authors.forename: J N
authors.initials: JN
authors.lastname: de Villiers
authors.forename: M P
authors.initials: MP
authors.lastname: Marx
authors.forename: R
authors.initials: R
authors.lastname: Zaire
authors.forename: F J
authors.initials: FJ
authors.lastname: Raal
authors.forename: M J
authors.initials: MJ
authors.lastname: Kotze
mesh_terms: D019943:Amino Acid Substitution; D018388:Codon, Terminator / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005858:Germany; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D011973:Receptors, LDL; D004247:DNA